Summary: A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)

Top Publications

  1. Ahn J, Kwon S, Shin M, Shim J, Kim O. A case of multiple schwannomas of the trigeminal nerves, acoustic nerves, lower cranial nerves, brachial plexuses and spinal canal: schwannomatosis or neurofibromatosis?. Yonsei Med J. 2002;43:109-13 pubmed
    ..Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis...
  2. Lund Johansen M, Scheie D, Muller T, Lundar T, Helseth E. Neurosurgical treatment of meningiomas in children and young adults. Childs Nerv Syst. 2001;17:719-23 pubmed
    ..We studied the frequency, functional outcome, association with neurofibromatosis (NF) and relapse in patients operated on for meningiomas at age 0-20 years in three Norwegian centers between 1972 and 1999...
  3. Menon G, Nair S, Sudhir J, Rao B, Mathew A, Bahuleyan B. Childhood and adolescent meningiomas: a report of 38 cases and review of literature. Acta Neurochir (Wien). 2009;151:239-44; discussion 244 pubmed publisher
    ..The aim is to study the clinical, radiological and pathological features of childhood and adolescent meningiomas and analyse outcome prognosticators...
  4. Lu Emerson C, Plotkin S. The Neurofibromatoses. Part 1: NF1. Rev Neurol Dis. 2009;6:E47-53 pubmed
    The neurofibromatoses, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, comprise a group of genetically distinct disorders of the nervous system unified by the predisposition to nerve sheath tumors...
  5. Goutagny S, Kalamarides M. Meningiomas and neurofibromatosis. J Neurooncol. 2010;99:341-7 pubmed publisher
  6. Uhlmann E, Plotkin S. Neurofibromatoses. Adv Exp Med Biol. 2012;724:266-77 pubmed publisher
    ..In this chapter, the genetics, molecular mechanism of disease, as well as clinical features, diagnosis and treatment are discussed...
  7. Veras L, Castellanos J, Ramirez G, Valer A, Casamitjana J, Gonzalez F. Atlanto axial instability due to neurofibromatosis: case report. Acta Orthop Belg. 2000;66:392-6 pubmed
    ..The incidence and variety of alterations of the cervical spine in patients affected with neurofibromatosis is discussed, as well as the results obtained by the treatment. ..
  8. Lamba M, Veinot J, Acharya V. Vascular and valvular involvement by neurofibromatosis. Pathology. 2002;34:380-3 pubmed
  9. Zamora A, Collard H, Wolters P, Webb W, King T. Neurofibromatosis-associated lung disease: a case series and literature review. Eur Respir J. 2007;29:210-4 pubmed
    ..In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. Its relationship to smoking remains unclear. ..

More Information

Publications113 found, 100 shown here

  1. Izu R, Gardeazabal J, Bejar J, Aguirre A, Diaz Perez J. A case of the elephant man phenotype with giant rhinophyma and benign symmetric lipomatosis. Clin Exp Dermatol. 1994;19:531-3 pubmed
    ..His physical appearance had isolated him from the rest of society and was probably the main reason for his alcohol abuse...
  2. Kornreich L, Blaser S, Schwarz M, Shuper A, Vishne T, Cohen I, et al. Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis. AJNR Am J Neuroradiol. 2001;22:1963-9 pubmed
    ..Our purpose was to describe the MR imaging features of OPG, compare the findings between patients with and those without NF, and identify prognostic imaging signs...
  3. Takeshima Y, Amatya V, Nakayori F, Nakano T, Sugiyama K, Inai K. Meningioangiomatosis occurring in a young male without neurofibromatosis: with special reference to its histogenesis and loss of heterozygosity in the NF2 gene region. Am J Surg Pathol. 2002;26:125-9 pubmed
    ..This is the first report of a genetic alteration in a case of meningioangiomatosis. ..
  4. Mantadakis E, Raissaki M, Danilatou V, Kambourakis A, Stiakaki E, Kalmanti M. Remission of a chiasmatic glioma in a non-NF1 patient after brief chemotherapy with vincristine and carboplatin: case report and literature review. J Neurooncol. 2004;67:95-100 pubmed
    ..A trial of vincristine and carboplatin may be worthwhile in children with symptomatic chiasmatic gliomas, irrespective of their age. ..
  5. Scoles D, Yong W, Qin Y, Wawrowsky K, Pulst S. Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c). Hum Mol Genet. 2006;15:1059-70 pubmed
    ..Consequently, eIF3c appears to be involved in NF2 pathogenesis and deserves to be investigated as a prognostic marker for NF2 and target for treatment of NF2 patient tumors. ..
  6. Zenker M. Genetic and pathogenetic aspects of Noonan syndrome and related disorders. Horm Res. 2009;72 Suppl 2:57-63 pubmed publisher
    ..It discusses the relationship between a group of developmental disorders and oncogenes. Potential future treatment prospects are based on the possibility of inhibiting RAS-MAPK signaling by pharmaceuticals...
  7. Draper G, Sanders B, Lennox E, Brownbill P. Patterns of childhood cancer among siblings. Br J Cancer. 1996;74:152-8 pubmed
    ..There is clearly a genetic element in the aetiology of cancer in some families discussed here; shared exposure to environmental causes may account for others and some will be simply due to chance. ..
  8. Muthukumar N. Segmental neurofibromatosis-induced spinal cord compression. Case report. J Neurosurg. 2001;95:236-8 pubmed
    ..Traditionally, it has been believed that segmental NF involved only the peripheral nerves. The present case illustrates that although rare, spinal cord compression can also occur in patients with segmental NF. ..
  9. Appu S, Valentine R, McLaughlin S. Gastrointestinal haemorrhage complicating small bowel neurofibromatosis. ANZ J Surg. 2005;75:83-4 pubmed
    ..Small bowel neurofibromatosis is a rare but important differential in gastrointestinal haemorrhage. Early diagnosis and surgery are vital for patient survival. ..
  10. Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, et al. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Hum Mutat. 2012;33:1599-609 pubmed publisher
    ..Our findings indicate that a combination of an open chromatin conformation and short non-B DNA-forming repeats may predispose to recurrent mitotic NAHR events between SUZ12 and its pseudogene. ..
  11. Kokubun S, Ozawa H, Sakurai M, Ishii Y. One-stage anterior and posterior correction of severe kyphosis of the cervical spine in neurofibromatosis. A case report. Spine (Phila Pa 1976). 1993;18:2332-5 pubmed
    ..The kyphosis was corrected to 42 degrees. Safety and better results of the one-stage correction of kyphosis is based on a concept of shortening the spinal canal. ..
  12. Mathijssen I, Roche N, Vaandrager J. Soft tissue fixation in the face with the use of a micro mitek anchor. J Craniofac Surg. 2005;16:117-9 pubmed
    ..In contrast, the use of bone anchors in facial neurofibromatosis has not been as rewarding. ..
  13. Boulanger J, Larbrisseau A. Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience. Can J Neurol Sci. 2005;32:225-31 pubmed
    ..To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis...
  14. Mann J, Siegel D. Common genodermatoses: what the pediatrician needs to know. Pediatr Ann. 2009;38:91-8 pubmed
  15. Toyoda K, Taguchi T, Kaneko K, Kato Y, Imajo Y, Imagama T. High-grade L5 spondylolisthesis associated with dural ectasia in neurofibromatosis. J Orthop Sci. 2005;10:233-6 pubmed
    ..The patient became pain free and was able to return to student life. Three years after surgery, the radiographs demonstrated good bony fusion; however, careful long-term follow-up is needed. ..
  16. Chatillon C, Guiot M, Corriveau M, Jacques L. Superficial femoral vein invasion by a benign neurofibroma in a non-neurofibromatosis patient: case report. Neurosurgery. 2006;58:E997; discussion E997 pubmed
    ..It suggests that surgical removal of asymptomatic benign-appearing lesions of that type should be considered if they are adjacent to important anatomical structures. ..
  17. Murovic J, Gibbs I, Chang S, Mobley B, Park J, Adler J. Foraminal nerve sheath tumors: intermediate follow-up after cyberknife radiosurgery. Neurosurgery. 2009;64:A33-43 pubmed publisher
    ..Symptomatic and neurological improvements were more noticeable with schwannomas. Myelopathic symptoms may necessitate surgical debulking before radiosurgery. ..
  18. Taungjaruwinai W, Goldberg L. Multinucleate giant cells in neurofibromas: a clue to the diagnosis of neurofibromatosis. J Cutan Pathol. 2009;36:1164-7 pubmed publisher
    ..7%), all in patients with single lesions. Although the incidence of floret-like giant cells in neurofibromas of patients with NF1 is unknown, our findings suggest that the presence of these cells might be a clue to the presence of NF1. ..
  19. Chen M, Chen K, Hou J, Lee C, Huang J. Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family. Am J Nephrol. 2002;22:376-80 pubmed
    ..It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons. ..
  20. Janeiro P, Cunha M, Cordeiro I, Santos H, Antunes N. [Simultaneous occurrence of neurofibromatosis and tuberous sclerosis, acquired as neo-mutations]. Rev Neurol. 2008;46:347-50 pubmed
    ..The child also had psycho motor development delay. The diagnosis of both disorders was confirmed by genetic study. Parents study was negative, so we can confirm the simultaneous occurrence of two new mutations which is unusually rare. ..
  21. Chueca Guindulain M, Berrade S, Oyarzabal M. [Low height and rare diseases]. An Sist Sanit Navar. 2008;31 Suppl 2:31-53 pubmed
    ..It always involves a multidisciplinary approach due to the frequent association of pathology it presents, and, in its turn, it offers the possibility of carrying out timely genetic counselling. ..
  22. Singhal D, Chen Y, Seselgyte R, Chen P, Chen Y. Craniofacial neurofibromatosis and tissue expansion: long-term results. J Plast Reconstr Aesthet Surg. 2012;65:956-9 pubmed publisher
    ..Tissue expansion of the forehead for both nasal reconstruction and temporo-orbital reconstruction demonstrated excellent long-lasting results. ..
  23. Solache Carranco A, Sánchez Bringas M. Evaluation of a respiratory rehabilitation program in children with scoliosis. Cir Cir. 2012;80:11-7 pubmed
    ..Oxygen saturation and forced vital capacity percentage had a significant increment after the program. Respiratory rehabilitation has a positive effect on increasing pulmonary function of children with scoliosis. ..
  24. Mazzoleni S, Stomaci D, Rizzo A, Rigo L, Bressan E, Stellini E. Solitary neurofibroma of the palate. A case report. Minerva Stomatol. 2009;58:453-8 pubmed
    ..The surgical excision of the entire mass was accompanied by the extraction of the upper left-hand second molar, which was attached to the mass through its palatal root. ..
  25. Kambayashi T, Suzuki T. [Neurogenic tumors originated from vagus nerve and intercostal nerve simultaneously; report of a case]. Kyobu Geka. 2011;64:516-9 pubmed
    ..Both tumors were removed by the operation, and the pathologic diagnosis of the neurofibroma was obtained. ..
  26. Smith M, Wallace A, Bowers N, Rustad C, Woods C, Leschziner G, et al. Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics. 2012;13:141-5 pubmed publisher
    ..SMARCB1 mutations are found in a significant proportion of schwannomatosis patients, but there remains the possibility that further causative genes remain to be found. ..
  27. Gonzalez Darder J, Pesudo Martinez J. Surgical treatment of multiple neurofibromas of the ulnar nerve in segmental neurofibromatosis. Case report. J Neurosurg. 1999;90:1137-40 pubmed
    ..The patient's symptoms fit the criteria for segmental NF or NF5. This is a very rare form of NF characterized by lesions located in a particular area of the body. ..
  28. Holman J, Dyer J. Genodermatoses with malignant potential. Curr Opin Pediatr. 2007;19:446-54 pubmed
    ..Certain inherited syndromes with a risk of neoplasia exhibit characteristic cutaneous findings. Recognition of these findings by the astute practitioner can lead to early intervention which can impact the course of these rare diseases. ..
  29. Blakeley J, Schreck K, Evans D, Korf B, Zagzag D, Karajannis M, et al. Clinical response to bevacizumab in schwannomatosis. Neurology. 2014;83:1986-7 pubmed publisher
  30. Neville H, Corpron C, Blakely M, Andrassy R. Pediatric neurofibrosarcoma. J Pediatr Surg. 2003;38:343-6; discussion 343-6 pubmed
    ..Neurofibrosarcoma is rare in children, and the natural history and prognostic factors are not well described. The authors present a 57-year review of their experience...
  31. Zou M, Butcher D, Sadikovic B, Groves T, Yee S, Rodenhiser D. Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region. Oncogene. 2004;23:330-9 pubmed
    ..This work provides new information concerning the transcriptional regulation of the NF1 gene, and is the most thorough attempt to date to map functionally relevant regions within the NF1 proximal promoter region. ..
  32. Powers J, Tischler A, Mohammed M, Naeem R. Microarray-based comparative genomic hybridization of pheochromocytoma cell lines from neurofibromatosis knockout mice reveals genetic alterations similar to those in human pheochromocytomas. Cancer Genet Cytogenet. 2005;159:27-31 pubmed
    ..Additional changes that may be specific to this model included complete or partial gains of chromosome 12 as seen in 3 of the 4 lines analyzed by array CGH. ..
  33. Ramanjam V, Adnams C, Ndondo A, Fieggen G, Fieggen K, Wilmshurst J. Clinical phenotype of South African children with neurofibromatosis 1. J Child Neurol. 2006;21:63-70 pubmed
    ..The combined clinic has resulted in a holistic approach to patient care, early detection of pathology, consistent therapies across the specialties, and better patient attendance and compliance. (J Child Neurol 2006;21:63-70). ..
  34. Bramhall R, Mathur B, Ramakrishnan V. Large dorsal intercostal perforator flap in extensive neurofibromatosis. Plast Reconstr Surg. 2008;121:2178-9; author reply 2179-80 pubmed publisher
  35. Karwacki M, Wozniak W. [Neurofibromatosis--an inborn genetic disorder with susceptibility to neoplasia]. Med Wieku Rozwoj. 2006;10:923-48 pubmed
    ..There is no known medical treatment beneficial to both groups of patients. The mainstay of care for Nf patients is anticipatory guidance, and early detection and symptomatic treatment of disease complications. ..
  36. Sugumaran H, Pappas J, Kodsi S. Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome. J AAPOS. 2011;15:593-4 pubmed publisher
    ..Congenital absence of the superior oblique tendon was diagnosed. Although Noonan syndrome is known to have many ocular manifestations, absence of the superior oblique tendon has not been previously reported. ..
  37. Pfohman M, Criddle L. Epidemiology of intracranial aneurysm and subarachnoid hemorrhage. J Neurosci Nurs. 2001;33:39-41 pubmed
    ..Acquired factors include traumatic brain injury, sepsis, smoking, and hypertension. Management of these patients consists of prevention, patient screening, and prophylactic aneurysm repair. ..
  38. Mekni A, Chelly I, Haouet S, Zitouna M, Kchir N. [Malignant cerebellar ganglioglioma. A case report and review of the literature]. Neurochirurgie. 2006;52:119-22 pubmed
    ..This case allows direct comparison between the histological findings in a multiform glioblastoma and a ganglioglioma. It also documents the aggressive biologic behavior of this complex neoplasm. ..
  39. McCarthy E. Genetic diseases of bones and joints. Semin Diagn Pathol. 2011;28:26-36 pubmed
    ..However, histologic studies often elucidate the pathophysiologic basis of these diseases and proper collection of tissues is important for the evolving understanding of the molecular basis of these disorders. ..
  40. Seminog O, Goldacre M. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br J Cancer. 2013;108:193-8 pubmed publisher
    The neurofibromatoses (NF) are genetic disorders. Increased risks of some cancers in people with NF are well recognised, but there is no comprehensive enumeration of the risks across the whole range of site-specific cancers...
  41. Chadha M, Singh A, Singh A. Hypophosphataemic osteomalacia in neurofibromatosis. Acta Orthop Belg. 2009;75:847-50 pubmed
    ..Association of neurofibromatosis with oncogenic osteomalacia is unusual. We report a rare case of oncogenic osteomalacia with generalized neurofibromatosis which presented to us as pathological fracture...
  42. Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC Neurol. 2011;11:9 pubmed publisher
    ..Combined with data available from other studies, they confirm the clinical indications for genetic screening of the SMARCB1 gene. ..
  43. Fieber L. Single K channel currents in Schwann cells from normal and neurofibromatosis-affected damselfish. J Neurosci Res. 1997;48:342-51 pubmed
  44. Vanhoenacker F, De Schepper A, Gielen J, Parizel P. MR imaging in the diagnosis and management of inheritable musculoskeletal disorders. Clin Radiol. 2005;60:160-70 pubmed
  45. Hwang D, Yim Y, Kwon H, Jung S. Multiple huge epidermal inclusion cysts mistaken as neurofibromatosis. J Craniofac Surg. 2008;19:1683-6 pubmed publisher
    ..Due to this misconception, any surgical treatment was not performed at all, and the symptoms eventually worsened as multiple huge epidermal inclusion cysts. We present this case with a brief review of literature. ..
  46. Bononi M, De Cesare A, Stella M, Fiori E, Galati G, Atella F, et al. Isolated intestinal neurofibromatosis of colon. Single case report and review of the literature. Dig Liver Dis. 2000;32:737-42 pubmed
    ..The differential diagnosis and treatment of this lesion are very difficult. A review of the literature is made and personal experience in the diagnosis and treatment of a case in a 68-year-old female is described. ..
  47. Pérez Ferrer A, Gredilla E, De Vicente J. [The defective adaptor of a continuous-flow capnograph as the cause of a respiratory circuit leak that was difficult to locate]. Rev Esp Anestesiol Reanim. 2002;49:341-2 pubmed
  48. Jayalakshmy P, Mohan A, Kumar R, Beevi P. A rare combination of pheochromocytoma and gastrointestinal stromal tumour in a patient with neurofibromatosis 1 syndrome-a case report. Surg Case Rep. 2015;1:102 pubmed publisher
    ..Here, we are reporting a case of NF1 syndrome with a combination of pheochromocytoma and gastrointestinal stromal tumour with additional findings of multiple clear cell nodules and brown fat in the periadrenal connective tissue. ..
  49. Marín Gutzke M, Sánchez Olaso A, Berenguer B, Gonzalez B, Rodriguez P, de Salamanca J, et al. Basal cell carcinoma in childhood after radiation therapy: case report and review. Ann Plast Surg. 2004;53:593-5 pubmed
    ..Radiated skin areas must be explored as part of the follow-up in children who received radiotherapy and should probably be maintained for life. The basal cell carcinoma in childhood is best treated by excision...
  50. Bertola D, Pereira A, Albano L, de Oliveira P, Kim C, Krieger J. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test. 2006;10:186-91 pubmed
    ..Noonan- like/multiple giant cell lesion syndrome, part of the spectrum of Noonan syndrome, is also heterogeneous...
  51. Maral T, Ozcan G. Functional reconstruction of the lateral face after ablative tumor resection: use of free muscle and musculocutaneous flaps. Head Neck. 2001;23:836-43 pubmed
  52. Hunt J, Hobar P. Common craniofacial anomalies: conditions of craniofacial atrophy/hypoplasia and neoplasia. Plast Reconstr Surg. 2003;111:1497-508; quiz 1509-10 pubmed
    ..Approaches to the surgical management of these conditions will be discussed. The craniofacial neoplastic conditions of fibrous dysplasia, neurofibromatosis, and craniofacial tumors will also be reviewed and discussed...
  53. Sahin A, Aypar U. Spinal anesthesia in a patient with neurofibromatosis. Anesth Analg. 2003;97:1855-6 pubmed
  54. Karaman B, Basekim C, Kantarci M, Mutlu H, Kitzilkaya E. Images of interest. Gastrointestinal: Abdominal neurofibromatosis. J Gastroenterol Hepatol. 2005;20:484 pubmed
  55. Ellison D, Corredor Buchmann J, Parham D, Jackson R. Malignant triton tumor presenting as a rectal mass in an 11-month-old. Pediatr Dev Pathol. 2005;8:235-9 pubmed
    ..To our knowledge, this is the first report of a malignant triton tumor of the rectum and one of the youngest patients reported with the tumor...
  56. Porto L, Hattingen E, Pilatus U, Kieslich M, Yan B, Schwabe D, et al. Proton magnetic resonance spectroscopy in childhood brainstem lesions. Childs Nerv Syst. 2007;23:305-14 pubmed
    ..Magnetic resonance spectroscopy (MRS) is a noninvasive technique for spatial characterization of biochemical markers in tissues and gives information regarding cell membrane proliferation, neuronal damage, and energy metabolism...
  57. McCann S. Cutaneous manifestations of systemic disease: leukemia/lymphoma, systemic malignancy, hypothyroidism, diabetes mellitus, and neurofibromatosis. Dermatol Nurs. 2006;18:476-8 pubmed
  58. Price H, Zaenglein A. Diagnosis and management of benign lumps and bumps in childhood. Curr Opin Pediatr. 2007;19:420-4 pubmed
    ..In this article, we highlight three of the most common 'lumps and bumps' seen in childhood: nevus sebaceus, pilomatricoma and juvenile xanthogranuloma...
  59. Vuĭtsik N, Butkevich A, Kuntsevich G, Zemlianoĭ A. [Differential diagnostics of acute inflammatory diseases and tumors of the neck]. Klin Med (Mosk). 2008;86:58-61 pubmed
    ..The study demonstrates that ultrasonography is the method of choice, which is in some cases enough to establish a diagnosis of an acute inflammatory disease or a tumorous formation of various localizations in the neck...
  60. Molina A, Chatterton B, Kalson N, Fallowfield M, Khandwala A. Multiple schwannomas of the upper limb related exclusively to the ulnar nerve in a patient with segmental schwannomatosis. J Plast Reconstr Aesthet Surg. 2013;66:e376-9 pubmed publisher
    ..One year post-operatively motor function was normal, but intermittent numbness still occurred. Two further asymptomatic schwannomas developed subsequently and were managed conservatively. ..
  61. Schulz E. Genodermatoses. Dermatol Clin. 1994;12:787-96 pubmed
    ..Albinism and xeroderma pigmentosum are important causes of cutaneous malignancy in the tropics. Neurofibromatosis and tuberous sclerosis are relatively common, whereas hypermelanosis of Ito is rare but easy to recognize in dark skin...
  62. Nieto M, Ruiz del Portal L, Garrido E, Navarrete M, Felipe F. [Cranioencephalic cutaneous angiofibromatosis]. Rev Neurol. 1996;24:1267-71 pubmed
    ..We discuss whether the presentation of this case of encephalocraneo-cutaneous angiofibromatosis is a new phenotype of tuberose sclerosis or a new neurocutaneous syndrome...
  63. Lupton J, Elgart M, Sulica V. Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn. J Am Acad Dermatol. 2000;43:895-7 pubmed
    ..This is a case of a nevus sebaceus occurring in association with and in the same physical distribution as segmental NF. These disorders most likely represent a spectrum of disease within the phakomatoses...
  64. Menard L, Magnaval G, Donnio A, Ayeboua L, Richer R, Merle H. [Lisch nodules: description of 2 clinical cases and their significance]. J Fr Ophtalmol. 2001;24:966-70 pubmed
    ..They are practically pathognomonic of type 1 neurofibromatosis and their finding is an important diagnostic argument. They must be distinguished from other iris nodules: nevus, melanoma, inflammatory nodules, and development anomalies...
  65. Weeber E, Levenson J, Sweatt J. Molecular genetics of human cognition. Mol Interv. 2002;2:376-91, 339 pubmed
  66. Binder D, Smith J, Barbaro N. Primary brachial plexus tumors: imaging, surgical, and pathological findings in 25 patients. Neurosurg Focus. 2004;16:E11 pubmed
    ..The authors report on the treatment of primary brachial plexus tumors in 25 patients at the University of California, San Francisco. They compare their findings with those obtained in similar series...
  67. Tatagiba M, Koerbel A. Re: Surgical management of brachial plexus region tumors. Surg Neurol 2004;61:372-8. Surg Neurol. 2004;62:372-3; author reply 373 pubmed
  68. Brennan P, Barlow A, Geraghty A, Summers D, Fitzpatrick M. Multiple schwannomatosis caused by the recently described INI1 gene--molecular pathology, and implications for prognosis. Br J Neurosurg. 2011;25:330-2 pubmed publisher
    ..We describe a patient with multiple schwannomas and mutation in the recently described INI1 gene, which also predisposes to the disease. We explore the implications for prognosis and outcome...
  69. Mohammed R, Hussein Y. Intrascrotal multiple neurofibromas unassociated with neurofibromatosis: a case report. Int J Surg Pathol. 2013;21:632-4 pubmed publisher
    ..We report the case of a 33-year-old male with multiple intrascrotal neurofibromas not associated with neurofibromatosis, treated by surgical excision. ..
  70. McLaughlin C, Kaffenberger B, Gru A. A hybrid tumor with schwannoma-perineurioma-neurofibroma morphology. J Cutan Pathol. 2015;42:911-3 pubmed publisher
  71. Arnsmeier S, Paller A. Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome?. Pediatr Dermatol. 1996;13:100-4 pubmed
  72. García Hernández F, Sanchez Roman J, Ocaña Medina C, Mateos Romero L. [Pulmonary hypertension in a patient with neurofibromatosis]. Med Clin (Barc). 2002;118:78-9 pubmed
  73. Al Rikabi A, Ramaswamy J, Bhat V. Jaffe-Campanacci syndrome. Saudi Med J. 2005;26:104-6 pubmed
  74. Bueno A, Acin F, Rodriguez J, March J, De Benito L, Fernandez Casado J. Ruptured popliteal aneurysm resulting from neurofibromatosis-a case report and review of the literature. Vasc Endovascular Surg. 2005;39:449-55 pubmed
    ..The presentation, diagnostic evaluation, and treatment are discussed, and the literature is reviewed on this rare entity...
  75. Young A, Lyons J, Miller A, Phan V, Alarcón I, McCormick F. Ras signaling and therapies. Adv Cancer Res. 2009;102:1-17 pubmed publisher
    ..Here we will discuss the complexities of Ras signaling and their effects on targeting the Ras pathway in the future...
  76. Khonsari R, Lepourry J, D Hauthuille C. [Neural jaw tumors]. Rev Stomatol Chir Maxillofac. 2010;111:27-31 pubmed publisher
    ..Surgery is the only treatment for facial neural tumors. Functional and esthetic issues are common. Recurrence and malignant transformation are severe complications of neurofibroma...
  77. Merwick A, O Brien M, Delanty N. Complex single gene disorders and epilepsy. Epilepsia. 2012;53 Suppl 4:81-91 pubmed publisher
    ..These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation...
  78. Aizenbud D, Hazan Molina H, Einy S, Goldsher D. Craniofacial magnetic resonance imaging with a gold solder-filled chain-like wire fixed orthodontic retainer. J Craniofac Surg. 2012;23:e654-7 pubmed publisher
    ..5-T systems when a gold solder-filled wire fixed retainer is involved with no concern regarding the patient's health or the accuracy of the MRI scans...
  79. Sedaghati nia A, Gilton A, Liger C, Binhas M, Cook F, Ait Mammar B, et al. Anaesthesia and intensive care management of face transplantation. Br J Anaesth. 2013;111:600-6 pubmed publisher
    ..Opportunistic bacterial infections were a feature during the postoperative period in these highly immunosuppressed patients. ..
  80. Gómez Oliveira G, de Diego Sastre J, Prim M, de Sarria Lucas M, Gavilán Bouzas J. [Electrooculographic findings in patients with neurofibromatosis]. Acta Otorrinolaringol Esp. 2001;52:313-6 pubmed
    ..The most frequent pathologic findings were: spontaneous nystagmus (37.5%) and abnormalities in the pursuit tracking test (31.2%). These results are discussed and the main literature concerning this matter is reviewed...
  81. Chien G, Gritsch H, Quinones Baldrich W. Simple surgical repair of bilateral renal artery stenosis in a patient with neurofibromatosis. J Urol. 2002;167:1811-2 pubmed
  82. Verlinsky Y, Kuliev A. Preimplantation diagnosis for diseases with genetic predisposition and nondisease testing. Expert Rev Mol Diagn. 2002;2:509-13 pubmed
  83. Legrand B, Filipe G, Blamoutier A, Khouri N, Mary P. [Intraspinal rib penetration in four patients in neurofibromatosis vertebral deformities]. Rev Chir Orthop Reparatrice Appar Mot. 2003;89:57-61 pubmed
    ..Surgical treatment must consist in ablation of the posterior ends of the dislocated ribs associated with anterior and posterior fusion. It should be performed early to avoid the development of spinal cord compression...
  84. Green T, Mauro M. SIR 2003 film panel case 4: neurofibromatosis. J Vasc Interv Radiol. 2003;14:663-6 pubmed
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    ..This case report is purposed to draw attention to this condition, mostly reported in adults and to review literature on the disease...
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    ..Although 2 patients had no systemic involvement, the third patient had hypertrophic cardiomyopathy, a cardiologic abnormality that is associated with neurofibromatosis...
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    ..There is a strong need for a broad agreement on nomenclature in children with myelodysplastic syndromes (MDS). We propose here to use the French-American-British classification for MDS in childhood...
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    ..In this particular case, a nonsurgical approach led to complete recovery of the patient and documented resolution of the hematoma...
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    ..On review of the literature, a significant mortality rate of 36% is revealed in addition to a surgical mortality of 33%. Treatment options are reviewed and potential management strategies are discussed...
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    ..A case of intercostal AVF associated with NF-1 and manifesting as congestive myelopathy is described...